ArticleJournal of translational medicine2023
Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla
Article in Journal of translational medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics.Genes & diseases · 2026Review
- Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology.Disease models & mechanisms · 2026Review
- Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease.Cells · 2026Review
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Neuroprotective effects of traditional Chinese medicine using zebrafish models - a review.Frontiers in pharmacology · 2026Review
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Recommendations of the Polish Zebrafish Society on the use of the zebrafish (Acta biochimica Polonica · 2026Review
- Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification.Frontiers in genetics · 2026Review
- Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.Brain : a journal of neurology · 2025Article
- Status and frontiers of Fabre disease.Orphanet journal of rare diseases · 2025Review
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation.Frontiers in immunology · 2025Article
- Article
- Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease.PloS one · 2024Article
- Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage.Frontiers in endocrinology · 2024Article
- Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or lack of α-galactosidase A activity. This results in the accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes causing cellular impairment and organ failures. While current therapies focus on reversing Gb3 accumulation, they do not address the altered cellular signaling in FD. Therefore, this study aims to explore Gb3-independent mechanisms of kidney damage in Fabry disease and identify potential biomarkers.
methodsTo investigate these mechanisms, we utilized a zebrafish (ZF) gla
resultsOur proteomics analysis of renal tissues from zebrafish revealed downregulation of lysosome and mitochondrial-related proteins in gla
conclusionsThese results suggest that the alterations observed at the proteome and mitochondrial level closely resemble well-known GLA mutation-related alterations in humans. Importantly, they also unveil novel Gb3-independent pathogenic mechanisms in Fabry disease. Understanding these mechanisms could potentially lead to the development of innovative drug screening approaches. Furthermore, the findings pave the way for identifying new clinical targets, offering new avenues for therapeutic interventions in Fabry disease. The zebrafish gla
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.